Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene

Autor: Khine Zaw, Elaine Y.M. Wong, Xiao Zhang, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Tina Lamey, Terri McLaren, John N. De Roach, Steve D. Wilton, Sue Fletcher, Chalermchai Mitrpant, Marcus D. Atlas, Fred K. Chen, Samuel McLenachan
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Stem Cell Research, Vol 50, Iss , Pp 102129- (2021)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2020.102129
Popis: Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma.
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